Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI

Journal of Inherited Metabolic Disease

Volumn 36, Issue 2, 2013, Pages 363-371

  Bartolomeo, Rosa ^a,b   Polishchuk, Elena V ^a   Volpi, Nicola ^c   Polishchuk, Roman S ^a   Auricchio, Alberto ^a,b  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ATALUREN; GENTAMICIN; GLYCOSAMINOGLYCAN; MANNOSE 6 PHOSPHATE; MESSENGER RNA; N ACETYLGALACTOSAMINE 4 SULFATASE; ARYLSULFATASE B, HUMAN; OXADIAZOLE DERIVATIVE; STOP CODON;

AMINO ACID SUBSTITUTION; ARTICLE; CELL LINE; CELL MEMBRANE PERMEABILITY; CONTROLLED STUDY; CULTURE MEDIUM; DRUG EFFICACY; ELECTRON MICROSCOPY; ENZYME ACTIVITY; ENZYME REPLACEMENT; EXON; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; LYSOSOME; MAROTEAUX LAMY SYNDROME; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PROTEIN DEGRADATION; PROTEIN SYNTHESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON; TRANSLATION REGULATION; DRUG EFFECTS; ENZYMOLOGY; GENETICS; MUCOPOLYSACCHARIDOSIS VI;

CELL LINE; CODON, NONSENSE; CODON, TERMINATOR; FIBROBLASTS; GENTAMICINS; HUMANS; MUCOPOLYSACCHARIDOSIS VI; N-ACETYLGALACTOSAMINE-4-SULFATASE; OXADIAZOLES;

EID: 84879685037     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9521-y     Document Type: Article

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